Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

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Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

Published:2005-09-28 Issue:10 Volume:50 Page:543-546
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Sawamura Daisuke,Goto Maki,Yasukawa Kana,Sato-Matsumura Kazuko,Nakamura Hideki,Ito Kei,Nakamura Hiroyuki,Tomita Yuki,Shimizu Hiroshi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200582.pdf

Reference20 articles.

1. Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J (1995) A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. J Invest Dermatol 104:438–440

2. Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, Uitto J (1997) Strategy for identification of sequence variants in COL7A1, and a novel 2 bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 10:408–414

3. Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, Heagerty A, Hintner H, Jonkman MF, McGrath J, McGuire J, Moshell A, Shimizu H, Tadini G, Uitto J (2000) Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42:1051–1066

4. Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M (2002) Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 119:1456–1462

5. Jarvikallio A, Pulkkinen L, Uitto J (1997) Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). Hum Mutat 10:338–347

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1. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16

2. Molecular genetic basis of epidermolysis bullosa;Vavilov Journal of Genetics and Breeding;2023-03-06

3. Genome Editing in Therapy of Genodermatoses;Molecular Biology;2022-12

4. Generation of a recessive dystrophic epidermolysis bullosa mouse model with patient-derived compound heterozygous mutations;Laboratory Investigation;2022-06

5. Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A;Journal of Dermatological Science;2022-06

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